ClinVar Miner

List of variants reported as likely benign for Schimke immuno-osseous dysplasia by Illumina Laboratory Services, Illumina

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.-137A>G rs115172989 0.02152
NM_014140.4(SMARCAL1):c.-200G>A rs79352134 0.02034
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00237
NM_014140.4(SMARCAL1):c.*30T>G rs186052380 0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00009

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